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NOP10 Gene Dyskeratosis congenita, autosomal recessive type 1 NGS Genetic Test

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NOP10 Gene Dyskeratosis congenita, autosomal recessive type 1 NGS Genetic Test

Short Name: NOP10 DC AR Type 1 NGS Test

Also known as: DKCA1, NOP10-related dyskeratosis congenita

NOP10 Gene Dyskeratosis congenita, autosomal recessive type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify mutations in the NOP10 gene for diagnosis of dyskeratosis congenita, autosomal recessive type 1.

Test Code
4895
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling session to draw a pedigree chart of family members affected with dyskeratosis congenita.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collection via venipuncture.

Step 3

Report Delivery

Sample sent to laboratory for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and pedigree analysis.
2
During the Test:Blood sample collection for DNA extraction and NGS sequencing.
3
After the Test:Results available in 3-4 weeks; genetic counseling recommended for interpretation.

About This Test

Who Should Get This Test

To identify mutations in the NOP10 gene for diagnosis of dyskeratosis congenita, autosomal recessive type 1.

How to Prepare

  • Avoid strenuous activity before blood draw
  • Ensure proper sample labeling

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for NOP10 gene mutations is crucial for early diagnosis and management of dyskeratosis congenita, helping in family planning and treatment decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood sample stable at room temperature for 24 hours
Extracted DNA stable at -20°C
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume

Understanding Your Results

Results indicate the presence or absence of mutations in the NOP10 gene associated with dyskeratosis congenita.
Normal result: No pathogenic variants detected, but clinical correlation needed
Positive result: Pathogenic variant identified, confirming diagnosis
Variant of uncertain significance: Further testing or family studies recommended
⚠️ When to Consult a Doctor:

If symptoms of dyskeratosis congenita are present or if there is a family history of the condition.

Limitations

  • May not detect all types of mutations
  • Results require clinical correlation

Risks & Considerations

  • Minor bruising at blood draw site
  • Rare infection risk

Interfering Factors

  • Contaminated DNA sample
  • Improper sample collection

Frequently Asked Questions

What is NOP10 gene dyskeratosis congenita?
It is a rare genetic disorder caused by mutations in the NOP10 gene, leading to symptoms like skin pigmentation, nail dystrophy, and bone marrow failure.
What are the symptoms of DKCA1?
Symptoms include abnormal skin pigmentation, nail dystrophy, oral leukoplakia, bone marrow failure, pulmonary fibrosis, and liver disease.
How is the test performed?
The test uses Next-Generation Sequencing (NGS) to analyze DNA from blood or extracted DNA samples for mutations in the NOP10 gene.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, including all laboratory procedures.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates the presence of pathogenic mutations in the NOP10 gene, confirming a diagnosis of dyskeratosis congenita.
Can this test be used for carrier screening?
Yes, it can identify carriers who may not have symptoms but can pass the condition to children.
Is genetic counseling required before the test?
Yes, a genetic counseling session is recommended to draw a family pedigree and discuss implications.
What are the risks of the test?
Risks are minimal, such as minor bruising from blood draw, with no significant health risks.
How accurate is the NGS test?
NGS technology provides high accuracy for detecting gene mutations, but results should be correlated with clinical findings.
What should I do if I have a family history of DC?
Consider genetic testing for early diagnosis and consult a genetic counselor for family planning advice.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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